| ID | Consequence | Gene/Location | Detail | Geno Type | CHD Type |
|---|---|---|---|---|---|
| S3122 | NA | SMAD7 | NM_005904.3:c.[894C>T;1206C>G] | CC | isolated CHD: NA |
| S3123 | NA | SMAD7 | NM_005904.3:c.[894C>T;1206C>G] | TG | isolated CHD: NA |
| S3124 | NA | SMAD7 | NM_005904.3:c.[894C>T;1206C>G] | TC | isolated CHD: NA |
| S3125 | NA | SMAD7 | NM_005904.3:c.[894C>T;1206C>G] | TG | isolated CHD: NA |